H30Q (p.His30Gln) variant of NPM1 (Nucleophosmin)
H30Q (p.His30Gln) in NPM1 (Nucleophosmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
H30Q (p.His30Gln) variant details
- p.His30Gln
- gnomAD 5-171390082-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.18
- CADD 22.30
- PolyPhen-2 0.25
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available